Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Prenatal maternal abnormality (HP:0002686)

Parent Node:
Abnormal maternal serum screening (HP:0011436)

..Starting node
..Low maternal circulating estriol concentration (HP:0008073)

Term ID:

8073

Name:

Low maternal circulating estriol concentration

Synonym:

Low maternal serum estriol

Definition:

An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age.

Comments:

Reference:

HP:0008073

Genes and Diseases:

Child Nodes:

Sister Nodes:

High maternal circulating alpha-fetoprotein concentration (HP:0011432)

High maternal circulating chorionic gonadotropin concentration (HP:0011433)

Low maternal circulating alpha-fetoprotein concentration (HP:0010570)

Low maternal circulating chorionic gonadotropin concentration (HP:0011434)

Low maternal circulating PAPP-A concentration (HP:0011435)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008073	HP:0008073	Low maternal circulating estriol concentration	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0008073	HP:0008073	Low maternal circulating estriol concentration	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0008073	HP:0008073	Low maternal circulating estriol concentration	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76

Genes (2) :CYP11A1 POR

Diseases (3) :ORPHA:168558 ORPHA:289548 OMIM:201750

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.